Related gene-specific medical variations for Gene (Select 26033) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332615	NM_207303.4(ATRNL1):c.16C>T (p.Arg6Trp)	ATRNL1, LOC130004804 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332564	NM_207303.4(ATRNL1):c.23G>T (p.Arg8Leu)	ATRNL1, LOC130004804 (R8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545510	NM_207303.4(ATRNL1):c.137A>G (p.Tyr46Cys)	ATRNL1, LOC130004804 (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380415	NM_207303.4(ATRNL1):c.113A>C (p.Asp38Ala)	ATRNL1, LOC130004804 (D38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362918	NM_207303.4(ATRNL1):c.52G>A (p.Gly18Arg)	ATRNL1, LOC130004804 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808896	GRCh37/hg19 10q25.3(chr10:116856071-117270956)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 1807617	GRCh37/hg19 10q25.3(chr10:117120957-117648757)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 979293	GRCh37/hg19 10q25.3(chr10:116786179-117612319)x3	ATRNL1	Copy number gain	not provided	GUncertain significance
Select item 687442	GRCh37/hg19 10q25.3(chr10:117395636-117501006)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687356	GRCh37/hg19 10q25.3(chr10:117011829-117066124)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687040	GRCh37/hg19 10q25.3(chr10:117019650-117087748)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687038	GRCh37/hg19 10q25.3(chr10:117120956-117239047)x3	ATRNL1	Copy number gain	not provided	GUncertain significance
Select item 686802	GRCh37/hg19 10q25.3(chr10:117019650-117075795)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 563709	GRCh37/hg19 10q25.3(chr10:116982511-117147613)x1	ATRNL1	Copy number loss	not provided	GLikely benign
Select item 563707	GRCh37/hg19 10q25.3(chr10:117013188-117141246)x1	ATRNL1	Copy number loss	not provided	GLikely benign
Select item 563689	GRCh37/hg19 10q25.3(chr10:117001774-117057510)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 442263	GRCh37/hg19 10q25.3(chr10:117203412-117239047)x1	ATRNL1	Copy number loss	See cases	GUncertain significance
Select item 149023	GRCh38/hg38 10q25.3(chr10:115124875-115304059)x1	ATRNL1	Copy number loss	See cases	GUncertain significance
Select item 148697	GRCh38/hg38 10q25.3(chr10:115174050-115304059)x1	ATRNL1	Copy number loss	See cases	GUncertain significance